Carrier detection in hemophilia A: ABO blood group, multiple measurements, and application of logistic discrimination

Am J Med Genet. 1988 Dec;31(4):871-9. doi: 10.1002/ajmg.1320310421.

Abstract

In healthy 20- to 50-year-old women, the ABO blood group has a significant effect on levels of von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) and on factor VIII activity (F.VIII:C). However, there is no significant effect of ABO group or subject age on the ratio log e(F.VIII:C/VWF:Ag). Multiple measurements of the "ratio" on possible carriers of hemophilia A may be combined with pedigree information using logistic discrimination to yield final risk assessment. To reduce misclassification of carriers as normal women, a lower limit, specified by the logistic model, is set on the logistic carrier probabilities. In this study, the proportion of blood group A for a population of obligate carriers was significantly higher than that expected for the general population (60% vs. 42%); for a population of control women it was lower than expected (22.5 vs. 42%). The effect for the carriers came primarily from daughters of affected fathers, as 81.3% were of blood group A. These observations indicate that a "universal" discriminant should be applied with caution.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ABO Blood-Group System / genetics*
  • Adult
  • Analysis of Variance
  • Blood Grouping and Crossmatching
  • Blood Specimen Collection
  • Factor VIII / analysis
  • Female
  • Genetic Carrier Screening / methods*
  • Hemophilia A / diagnosis
  • Hemophilia A / genetics*
  • Humans
  • Male
  • Middle Aged
  • Risk

Substances

  • ABO Blood-Group System
  • Factor VIII